Juvenile hyaline fibromatosis (JHF) is a rare bone dysplasia, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue. Soft tissue. Fibroblastic / myofibroblastic tumors. Juvenile hyaline fibromatosis. Author: Lauren N. Stuart M.D., M.B.A.. Editor: Jerad M. Gardner. Juvenile hyaline fibromatosis is a very rare, autosomal recessive disease due to mutations in capillary morphogenesis protein-2 (CMG-2 gene). It occurs from.
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The authors concluded that their findings supported the hypothesis of autosomal recessive inheritance of this condition. Two siblings with juvenile hyaline fibromatosis: New author database being installed, click here for details. Sign up for our Email Newsletters. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis.
Juvenjle patients may show intractable diarrhea and increased susceptibility to infection. Find articles by Manjunath V Gubanna.
Dermal and subcutaneous growths Dermal and subcutaneous growth stubs. Juvenile fibromatosis in siblings fibromatosis hyalinica multiplex juvenilis. Murray and Whitfield and Robinson reported 3 affected sibs whose unaffected parents were first cousins. A year follow-up of multiple juvenile fibromatosis.
JUVENILE HYALINE FIBROMATOSIS
Progressive, chronic, and often debilitating disease Pearly papules and plaques face, posterior neck, perianal region Large, subcutaneous nodules most often on scalp Gingival hypertrophy Flexure contractures due to masses in periarticular soft tissue Osteolytic bone lesions of skull, long bones, phalanges J Am Acad Dermatol ; Unfortunately, it is not free to produce.
We need long-term secure funding to provide you the information that you need hyaine your fingertips. He had a history of pearly and nodular skin lesions, gingival hyperplasia, and joint contractures from the first months of life. Large ulcerated nodules hyxline back.
Juvenile hyaline fibromatosis – Wikipedia
In contrast, hyaluronan is the most abundant in normal skin. Radiographs showed osteopenia or osteolysis, and skin biopsy showed excessive hyaline deposition. This article has been cited by other articles in PMC.
Related articles Capillary morphogenesis gene 2 mutations hyaline fibromatosis syndrome infantile systemic hyalinosis juvenile hyaline fibromatosis.
Indian Dermatol Online J ;1: Morphologic, immunohistochemical and ultrastructural study of three siblings. Footnotes Fibrojatosis of support: Boys are affected slightly more commonly than girls.
Ultrastructure of a fibromatosis hyalinica multiplex juvenilis. Smuscle specific actin Am J Dermatopathol ; They were soft to firm in consistency and nontender. Find articles by Bibhas Saha Dalal.
As of now, there is no specific treatment for this disorder. Author information Article notes Copyright and License information Disclaimer. La fibromatose disseminee douloureuse hyalinose systemique: Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline hywline and infantile systemic hyalinosis.
Juvenile hyaline fibromatosis
This gene is also known as capillary morphogenesis protein Languages Polski Edit links. The matrix was PAS positive [ Figure 5 ]. Clinical update and phenotype-genotype correlations.